A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982220



Internal ID12626699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47164424..47346286hg38UCSC Ensembl
Innerchr12:47558207..47740069hg19UCSC Ensembl
Innerchr12:45844474..46026336hg18UCSC Ensembl
Innerchr12:45844474..46026336hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38181863
hg19181863
hg18181863
hg17181863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751100
Supporting Variants
SamplesBEC_404
Known GenesMIR4698, PCED1B, PCED1B-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982220
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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